Chromosomal Disorders — Flashcards

Flashcard 1: _____ is a 22q11 deletion syndrome that presents with thymic aplasia, parathyroid aplasia and cardiac defects.

Answer: DiGeorge Syndrome

Flashcard 2: The findings in **Patau syndrome** (Trisomy 13) may be remembered with the **5 Ps**: - Cleft _____ - HoloProsencephaly - Polydactyly - aPlasia cutis - Polycystic kidney disease

Answer: palate

Flashcard 3: Which genomic test would be helpful in evaluating suspected DiGeorge Syndrome?_____

Answer: FISH

Flashcard 4: Triangular facies, relative macrocephaly, and 5th finger clinodactyly are indicative of which syndrome?

Answer: Russell-Silver syndrome

Flashcard 5: WAGR syndrome is a combination of: 1. _____ 2. Aniridia (absence of iris) 3. Genital abnormalities 4. mental or motor Retardation

Answer: Wilms tumor

Flashcard 6: _____ syndrome is caused by a congenital microdeletion of chromosome 7q (long arm)

Answer: Williams

Flashcard 7: In a small fraction of patients with normal cytogenetic studies, targeted evaluation of DiGeorge locus genes, such as _____, may be indicated.

Answer: TBX1

Flashcard 8: What is the most common genetic cause of intellectual disability (mental retardation)?

Answer: Down syndrome (Trisomy 21)

Extra: - Most common **genetic/chromosomal** cause: Down syndrome. - Most common **inherited** cause: Fragile X syndrome.

Flashcard 9: Characteristic clinical findings in **Phenylketonuria** include a _____ odor, hypopigmentation (fair skin/blue eyes), and intellectual disability.

Answer: musty or mousy

Flashcard 10: The abnormality of _____ syndrome is arterio-hepatic dysplasia

Answer: Alagille